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How broad is the phenotype of Hallervorden–Spatz disease?
Author(s) -
Hickman S. J.,
Ward N. S.,
Surtees R. A. H.,
Stevens J. M.,
Farmer S. F.
Publication year - 2001
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2001.103003201.x
Subject(s) - dystonia , globus pallidus , magnetic resonance imaging , substantia nigra , pediatrics , cognitive decline , dementia , disease , medicine , age of onset , psychology , neuroscience , degenerative disease , parkinson's disease , pathology , basal ganglia , central nervous system , radiology
Magnetic resonance imaging (MRI) has enabled ante mortem diagnosis of Hallervorden–Spatz disease (HSD). Childhood‐onset cases are the most common type and usually present with progressive dystonia and dementia. The duration of illness is 15 to 20 years, leading to death. Presentation in adulthood and infancy have also been reported, however again the progression is usually inexorable. We present a 30‐year‐old woman who developed cognitive and motor developmental delay from the age of 8 months. There was further cognitive decline in her late teenage years with seizures and then more recent motor decline with dystonia. The imaging appearance was of iron deposition in the globus pallidus and substantia nigra leading to a diagnosis of HSD. The increased availability of MRI has allowed more cases of HSD to be diagnosed in life but as our case illustrates classification of the disease may need to be further examined.